Additional file 1: of Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Renal_hypouricemia_caused_by_novel_compound_heterozygous_mutations_in_the_SLC22A12_gene_a_case_report_with_literature_review/6957911/1
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The putative genetic mutations in WES analysis. According to an assumed inheritance of autosomal recessive mode for this disease, we first analyzed the putative genetic mutations homozygous in the patient and heterozygous in both parents. After filtering, 29 variants were retained (see Sheet 1). We also analyzed the putative causal mutations present in the patient but not present in her parents. After filtering, a total of 521 suspicious mutations were screened out (see Sheet 2). (XLSX 298Â kb)
提供机构：
Song, Zhijian; Ma, Lidan; Li, Changgui; Shi, Yongyong; Wang, Ke; Zhou, Juan; Chen, Boyu; Li, Zhiqiang; Zhang, Jinmai; Pan, Dun; Zhou, Zhaowei
创建时间：
2018-08-11
